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Wyświetlanie 1-5 z 5
Tytuł:
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs.
Autorzy:
Manganelli F; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Parisi S; Department of Molecular Medicine and Medical Biotechnologies, University of Naples 'Federico II', Naples, Italy.
Nolano M; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.; Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, SpA SB, Pavia, Italy.
Miceli F; Section of Pharmacology, Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Tozza S; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Pisciotta C; Rare Neurodegenerative and Neurometabolic Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Iodice R; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Provitera V; Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, SpA SB, Pavia, Italy.
Cicatiello R; Department of Molecular Medicine and Medical Biotechnologies, University of Naples 'Federico II', Naples, Italy.
Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
Taglialatela M; Section of Pharmacology, Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Russo T; Department of Molecular Medicine and Medical Biotechnologies, University of Naples 'Federico II', Naples, Italy.
Santoro L; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2019 Dec; Vol. 24 (4), pp. 330-339. Date of Electronic Publication: 2019 Nov 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Charcot-Marie-Tooth Disease/*genetics
Induced Pluripotent Stem Cells/*physiology
Sodium-Potassium-Exchanging ATPase/*genetics
Cell Differentiation/physiology ; Cells, Cultured ; Electrophysiological Phenomena ; Humans ; Pedigree
Czasopismo naukowe
Tytuł:
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
Autorzy:
Marchi M; Neuroalgology Unit, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Provitera V; Neurology Department, Istituti Clinici Scientifici Maugeri, IRCCS Telese Terme, Benevento, Italy.
Nolano M; Neurology Department, Istituti Clinici Scientifici Maugeri, IRCCS Telese Terme, Benevento, Italy.; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II, Naples, Italy.
Romano M; Department of Neurology, AOOR Villa Sofia Cervello, Palermo, Italy.
Maccora S; IRCCS 'Bonino-Pulejo', Messina, Italy.
D'Amato I; Neuroalgology Unit, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Salvi E; Neuroalgology Unit, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.; Department of Health Sciences, University of Milan, Milan, Italy.
Gerrits M; Clinical Genetics and Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Santoro L; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II, Naples, Italy.
Lauria G; Neuroalgology Unit, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.; Department of Biomedical and Clinical Sciences 'Luigi Sacco', University of Milan, Milan, Italy.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2018 Sep; Vol. 23 (3), pp. 202-206. Date of Electronic Publication: 2018 Jul 23.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
NAV1.7 Voltage-Gated Sodium Channel/*genetics
Pain Insensitivity, Congenital/*genetics
Child ; Female ; Genotype ; Heterozygote ; Humans ; Mutation ; Phenotype
Raport
Tytuł:
A device to measure secretion of individual sweat glands for diagnosis of peripheral neuropathy.
Autorzy:
Loavenbruck AJ; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
Hodges JS; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
Provitera V; Telese Terme, 'S. Maugeri' Foundation IRCCS, Benevento, Italy.
Nolano M; Telese Terme, 'S. Maugeri' Foundation IRCCS, Benevento, Italy.
Wendelshafer-Crabb G; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
Kennedy WR; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Jun; Vol. 22 (2), pp. 139-148.
Typ publikacji:
Journal Article
MeSH Terms:
Clinical Chemistry Tests/*instrumentation
Clinical Chemistry Tests/*methods
Peripheral Nervous System Diseases/*pathology
Sweat Glands/*physiopathology
Sweating/*physiology
Adolescent ; Adult ; Age Factors ; Female ; Humans ; Male ; Muscarinic Agonists ; Peripheral Nervous System Diseases/complications ; Pilocarpine/pharmacology ; Sex Factors ; Skin ; Sweat Glands/drug effects ; Sweating/drug effects ; Young Adult
Czasopismo naukowe
Tytuł:
Epidermal innervation morphometry by immunofluorescence and bright-field microscopy.
Autorzy:
Nolano M; 'Salvatore Maugeri' Foundation, Institute of Telese Terme (BN), Telese Terme (BN), Italy.
Biasiotta A; Department of Neurology and Psychiatry, University Sapienza, Rome, Italy.
Lombardi R; 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Clinic, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Provitera V; 'Salvatore Maugeri' Foundation, Institute of Telese Terme (BN), Telese Terme (BN), Italy.
Stancanelli A; 'Salvatore Maugeri' Foundation, Institute of Telese Terme (BN), Telese Terme (BN), Italy.
Caporaso G; 'Salvatore Maugeri' Foundation, Institute of Telese Terme (BN), Telese Terme (BN), Italy.
Santoro L; Department of Neurosciences, Reproductive Science and Odontostomatology, University Federico II of Naples, Napoli, Italy.
Merkies IS; Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands.
Truini A; Department of Neurology and Psychiatry, University Sapienza, Rome, Italy.
Porretta-Serapiglia C; 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Clinic, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Cazzato D; 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Clinic, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Dacci P; 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Clinic, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
Vitale DF; 'Salvatore Maugeri' Foundation, Institute of Telese Terme (BN), Telese Terme (BN), Italy.
Lauria G; 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Clinic, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2015 Dec; Vol. 20 (4), pp. 387-91.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermis/*innervation
Erythromelalgia/*pathology
Fluorescent Antibody Technique/*methods
Immunohistochemistry/*methods
Microscopy/*methods
Nerve Fibers/*pathology
Adult ; Aged ; Biopsy ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł:
Autonomic nervous system involvement in a new CMT2B family.
Autorzy:
Manganelli F; Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
Pisciotta C
Provitera V
Taioli F
Iodice R
Topa A
Fabrizi GM
Nolano M
Santoro L
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2012 Sep; Vol. 17 (3), pp. 361-4.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Autonomic Nervous System Diseases/*complications
Autonomic Nervous System Diseases/*diagnosis
Charcot-Marie-Tooth Disease/*complications
Charcot-Marie-Tooth Disease/*diagnosis
Aged, 80 and over ; Female ; Humans ; Laminopathies ; Male ; Middle Aged
SCR Disease Name:
Charcot-Marie-Tooth disease, Type 2B
Czasopismo naukowe
    Wyświetlanie 1-5 z 5

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